Stead Family Department of Pediatrics- Medical Genetics

  • About the Division

    The Division of Medical Genetics is committed to excellence in providing comprehensive services for children, adults and prenatal patients in the diagnosis, treatment, and management of genetic conditions. The division's multidisciplinary team is comprised of board certified medical geneticists, a molecular genetic pathologist, genetic counselors, nurses, dietitians and nurse practitioners.  Several clinical genetic services including General Genetics Clinics, Metabolic Genetics Clinics, Connective Tissue Disorder Clinics, Neurofibromatosis Clinics and Outreach Genetics Clinics are offered by the Division of Medical Genetics. Genetic diseases and disorders affect families as well as individuals. The medical team provides the information, support and follow-up needed to make informed decisions. The medical genetics team collaborates with state and federal agencies, educators, researchers, support groups and others to provide the latest information and treatment options for Iowans and their families.

    In addition to clinical and laboratory diagnostic services, the Division of Medical Genetics offers a rich and creative research environment involving and elucidating the genetic determinants of intellectual disability and cognitive developmental delay.

    Located within the division is the Shivanand R. Patil Cytogenetics and Molecular Laboratory. The lab is a nationally accredited, CAP-inspected, CLIA certified facility that tests and analyzes subtle changes in genes and chromosomes to assist in the diagnosis of complex developmental problems in children and adults using state-of-the-art methods. The laboratory performs conventional chromosome analysis, fluorescence in situ hybridization (FISH), and chromosomal microarray for a myriad of indications including cancer diagnosis/prognosis as well as both post and pre-natal genetics.

    Dr. Val Sheffield’s research laboratory is located in the Medical Education Research Facility. He is interested in identifying and understanding the function of genes that cause a variety of human disorders. His work also includes understanding disease pathophysiology with the goal of developing novel interventions and treatments. His research efforts have focused on the molecular genetics of monogenic disorders that have phenotypic overlap with common complex diseases. His laboratory has used positional cloning methods to identify genes involved in a number of different diseases including blinding disorders: Retinal degeneration, glaucoma and macular degeneration. Complex genetic disorders currently under investigation in the laboratory include hypertension, obesity and hydrocephalus. Dr. Sheffield has also had an active role in the human genome project and the rat genome project. His laboratory has developed numerous mouse models of disease, which are being used to explore novel treatments.

    The Iowa Newborn Screening Program is also housed within the Division of Medical Genetics. The Iowa Newborn Screening Program is a collaborative effort between the Iowa Department of Public Health, The State Hygienic Laboratory at the University of Iowa and the Division of Medical Genetics. The program screens for over 50 disorders, including CF, congenital hypothyroidism, congenital adrenal hyperplasia, hemoglobinopathies, metabolic disorders and severe combined immunodeficiency.

    The University of Iowa Children’s Hospital, Division of Medical Genetics, offers a Medical Genetics Residency Program. Our 2-year accredited program will provide clinical medical geneticists with the skills necessary for comprehensive diagnostic, management and genetic counseling services for patients and families with genetic disorders and birth defects.

    The Division of Medical Genetics educates residents, medical students and allied healthcare students in the basics of genetic disorders so that they can improve healthcare by identifying potential genetic disorders and properly referring and managing this patient population.

    Education and assistance to practicing physicians and allied healthcare providers throughout the state is provided through the division so that they can also improve healthcare by properly referring and managing patients with genetic disorders.

    The Division of Medical Genetics educates the general population to improve the understanding of basic genetics so that individuals can make informed healthcare decisions for themselves and their family members.